Varaico: Literature-Extracted Genetic Variants

RRM1

432 papers

RefSeq Summary

This gene encodes the large and catalytic subunit of ribonucleotide reductase, an enzyme essential for the conversion of ribonucleotides into deoxyribonucleotides. A pool of available deoxyribonucleot...

Pfam Domains

ATP-coneaa 1–89UCSCATP cone domain

Ribonuc_red_lgNaa 141–213UCSCRibonucleotide reductase, all-alpha domain

Ribonuc_red_lgCaa 216–738UCSCRibonucleotide reductase, barrel domain

Gene Aliases

HGNC Name

ribonucleotide reductase catalytic subunit M1

HGNC Previous Name

ribonucleotide reductase M1 polypeptide

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001033.5

p.F311S

c.932T>C

Surrounding Variants

1 paper

NM_001033.5

p.K315insFs

c.943_944insC

1 paper

NM_001033.5

p.H305Y

c.913C>T

1 paper

NM_001033.5

p.K320R

c.959A>G

1 paper

NM_001033.5

p.L301P

c.902T>C

1 paper

NM_001033.5

p.R326fs

c.976_977fs

1 paper

NM_001033.5

p.A296T

c.886G>A

3 papers

NM_001033.5

p.G295R

c.883G>A

3 papers

NM_001033.5

p.G295R

c.883G>C

1 paper

NM_001033.5

p.L328I

c.982C>A

1 paper

NM_001033.5

p.L328L

c.984T>G

1 paper

NM_001033.5

p.K340I

c.1019A>T

1 paper

NM_001033.5

p.V342M

c.1024G>A